A5072211205- Lipoproteins and Cardiovascular Health
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Lipid metabolism and disorders
- Cancer, Lipids, and Metabolism
- Cholesterol and Lipid Metabolism
- Genetic Associations and Epidemiology
- Peroxisome Proliferator-Activated Receptors
- Atherosclerosis and Cardiovascular Diseases
- Adipokines, Inflammation, and Metabolic Diseases
- Adipose Tissue and Metabolism
- Hormonal Regulation and Hypertension
- Antioxidant Activity and Oxidative Stress
- Renal Diseases and Glomerulopathies
- Computational Drug Discovery Methods
- Child and Adolescent Health
- Diabetes Treatment and Management
- RNA modifications and cancer
- Healthcare Policy and Management
- Nuclear Receptors and Signaling
- Cardiovascular Function and Risk Factors
- Advanced Biosensing Techniques and Applications
- Liver Disease Diagnosis and Treatment
- Alzheimer's disease research and treatments
- Regulation of Appetite and Obesity
- Cardiac electrophysiology and arrhythmias
University of California, San Francisco
2016-2025
Virginia Cooperative Extension
2024
North Carolina State University
2024
University of Arkansas at Fayetteville
2023-2024
University of California System
2023
Philadelphia University
2019
University of California San Francisco Medical Center
1982-2018
Harvard University Press
2018
Oregon Medical Research Center
2018
Université du Québec à Chicoutimi
2016-2017
A genome-wide association study was performed to identify genetic factors involved in susceptibility psoriasis (PS) and psoriatic arthritis (PSA), inflammatory diseases of the skin joints humans. 223 PS cases (including 91 with PSA) were genotyped 311,398 single nucleotide polymorphisms (SNPs), results compared those from 519 Northern European controls. Replications an independent cohort 577 737 controls U.S., 576 PSA patients 480 U.K.. Strongest associations class I region major...
Bile acid synthesis plays a critical role in the maintenance of mammalian cholesterol homeostasis. The CYP7A1 gene encodes enzyme 7alpha-hydroxylase, which catalyzes initial step catabolism and bile synthesis. We report here new metabolic disorder presenting with hyperlipidemia caused by homozygous deletion mutation CYP7A1. leads to frameshift (L413fsX414) that results loss active site function. High levels LDL were seen three subjects. Analysis liver biopsy stool from one these subjects...
AbstractBackground: Dark chocolate derived from the plant (Theobroma cacao) is a rich source of flavonoids. Cardioprotective effects including antioxidant properties, inhibition platelet activity, and activation endothelial nitric oxide synthase have been ascribed to cocoa flavonoids.Objective: To investigate flavonoid-rich dark on function, measures oxidative stress, blood lipids, pressure in healthy adult subjects.Design: The study was randomized, double-blind, placebo-controlled design...
Bile acid synthesis plays a critical role in the maintenance of mammalian cholesterol homeostasis. The CYP7A1 gene encodes enzyme 7α-hydroxylase, which catalyzes initial step catabolism and bile synthesis. We report here new metabolic disorder presenting with hyperlipidemia caused by homozygous deletion mutation CYP7A1. leads to frameshift (L413fsX414) that results loss active site function. High levels LDL were seen three subjects. Analysis liver biopsy stool from one these subjects...
•Severe hypertriglyceridemia has a strong genetic basis.•Almost all of those with genetically identified factors had polygenic hypertriglyceridemia.•Biallelic (ie, homozygous or compound heterozygous) variants were infrequent.•The accumulation common was the most predominant determinant. BackgroundHypertriglyceridemia (HTG) is complex trait defined by elevated plasma triglyceride levels. Genetic determinants HTG have so far been examined in piecemeal manner; understanding its molecular...
Recent studies have evaluated whether incorporating nontraditional risk factors improves coronary heart disease (CHD) prediction models. This 1986–2001 US study aggregated the contribution of multiple single nucleotide polymorphisms into a genetic score (GRS) and assessed GRS plus traditional predict CHD better than alone. The Atherosclerosis Risk in Communities (ARIC) cohort was followed for median 13 years events (n = 1,452). Individuals were genotyped 116 associated with case-control...
Hyperlipidemia is associated with endothelial dysfunction, an early event in atherosclerosis and predictor of risk for future coronary artery disease. Epidemiological studies suggest that increased dietary intake antioxidants reduces the The purpose this study was to determine whether antioxidant vitamin therapy improves function affects surrogate biomarkers oxidative stress inflammation hyperlipidemic children.In a randomized, double-blind, placebo-controlled trial, effects vitamins C (500...
A number of chronic diseases, including cardiovascular disease, appear to have a multifactorial genetic risk component. Consequently, techniques are needed facilitate evaluation complex factors in large cohorts. We designed prototype assay for genotyping panel 35 biallelic sites that represent variation within 15 genes from biochemical pathways implicated the development and progression disease. Each DNA sample is amplified using two multiplex polymerase chain reactions, alleles genotyped...
Background While estrogens protect against coronary artery disease in women, it is unclear whether they influence cardiovascular function men. The present report describes vascular abnormalities and the lipoprotein profile of a male patient with estrogen insensitivity caused by disruptive mutation estrogen-receptor gene. Methods Results Stress thallium scintigraphy, echocardiography, electron-beam computed tomography (CT) scanning arteries detailed analysis were performed. Electron-beam CT...
Detection of new ligand-defective mutations apolipoprotein B (apoB) will enable identification sequences involved in binding to the LDL receptor. Genomic DNA from patients attending a lipid clinic was screened by single-strand conformation polymorphism analysis for novel putative receptor-binding domain apoB-100. A 46-yr-old woman Celtic and Native American ancestry with primary hypercholesterolemia (total cholesterol [TC] 343 mg/dl; [LDL-C] 241 mg/dl) pronounced peripheral vascular disease...
To study the mechanisms of discrimination between various forms vitamin E, four normal subjects, one patient with lipoprotein lipase deficiency, and three patients abnormal apolipoprotein B-100 production were given an oral dose containing tocopherols labeled differing amounts deuterium ( 2R,4'R,2)tocopheryl acetate (de-RRR-a-tocopheryl acetate), 2S,4'R,8'R-a-5-(C2H3)tocopheryl (d3-SRR-a-tocopheryl 2R,4'R,8'R-y-(3,4-2H)tocopherol (d2-RRR-y-tocopherol).The tocopherol contents plasma, red...
We studied the effect of bile acid sequestrant colestipol, alone and in combination with clofibrate or niacin, patients heterozygous familial hypercholesterolemia who were given a diet low cholesterol saturated fat. With colestipol alone, mean levels serum decreased 16 to 25 per cent. The addition produced total decrement only 28 In contrast, fell 45 cent when was combined niacin. Low-density-lipoprotein (LDL) 55 whereas highdensity-lipoprotein (HDL) increased. Mean LDL lower this regimen...
In the two genetic forms of abetalipoproteinemia described previously, recessive and homozygous hypobetalipoproteinemia, all lipoproteins that normally contain apolipoprotein B are absent from plasma. We describe here a new disorder in which normal low density very absent, but triglycerides absorbed intestine chylomicrons present The underlying molecular defect appears to be selective deletion hepatogenous B-100 apolipoprotein. B-48 found is spared. These findings suggest species under...
We asked whether single nucleotide polymorphisms (SNPs) that had been nominally associated with cardiovascular disease in antecedent studies were also a population-based prospective study of 4522 individuals aged 65 or older.Based on studies, we prespecified risk allele and an inheritance model for each 74 SNPs. then tested the association these SNPs myocardial infarction (MI) Cardiovascular Health Study (CHS). The alleles 8 (1-sided P<0.05) increased MI White CHS participants. false...
The purpose of this study was to identify genetic variants associated with severe coronary artery disease (CAD).We used 3 case-control studies white subjects whose severity CAD assessed by angiography. first 2 were generate hypotheses that then tested in the third study. We 12,077 putative functional single nucleotide polymorphisms (SNPs) Study 1 (781 cases, 603 controls) and identified 302 SNPs nominally CAD. Testing these (471 298 controls), we found 5 (in LPA, CALM1, HAP1, AP3B1, ABCG2)...
The primary objective of this study was to determine whether the National Cholesterol Education Program Step II (NCEP-II) diet or supplementation with docosahexaenoic acid (DHA) diet, affects endothelial function in children familial hypercholesterolemia (FH) phenotype combined hyperlipidemia (FCH). As secondary endpoints, influence and DHA on lipid profiles as well biomarkers for oxidative stress inflammation, asymmetric dimethylarginine (ADMA), an endogenous inhibitor nitric oxide...
Functionally significant heterozygous mutations in the Melanocortin-4 receptor (MC4R) have been implicated 2.5% of early onset obesity cases European cohorts. The role this gene severely obese adults, particularly smaller North American patient cohorts, has less convincing. More recently, it proposed that a phylogenetically and physiologically related receptor, Melanocortin-3 (MC3R), could also be cause severe human obesity. objectives study were to determine if impairing function MC4R or...
We used the low molecular weight form of apolipoprotein B (B-48) as a marker for identification remnant particles formed from chylomicrons in plasma patients with familial dysbetalipoproteinemia. In serum fasted 14 hours, d less than 1.006 g/cm3 lipoproteins prebeta mobility, separated by starch block electrophoresis, contained only primary hepatogenous species (B-100), and their lipid composition resembled that normal very density lipoproteins. contrast, fraction beta mobility both B-48...